A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B

Journal of Medical Genetics
Anas M AlazamiFowzan S Alkuraya

Abstract

Klippel-Feil anomaly (KFA) can be seen in a number of syndromes. We describe an apparently novel syndromic association with KFA. Clinical phenotyping of two consanguineous families followed by combined autozygome/exome analysis. Two patients from two apparently unrelated families shared a strikingly similar phenotype characterised by KFA, myopathy, mild short stature, microcephaly, and distinctive facies. They shared a single founder autozygous interval in which whole exome sequencing revealed a truncating mutation in MYO18B. There was virtually complete loss of the transcript in peripheral blood, indicative of nonsense-mediated decay. Electron microscopy of muscle confirms abnormal myosin filaments with accompanying myopathic changes. Deficiency of MYO18B is linked to a novel developmental disorder which combines KFA with myopathy. This suggests a widespread developmental role for this gene in humans, as observed for its murine ortholog.

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Citations

Jan 12, 2016·The Journal of Clinical Investigation·Yavuz BayramJames R Lupski
Nov 19, 2015·Orphanet Journal of Rare Diseases·Emily J ToddGianina Ravenscroft
Jul 23, 2015·European Journal of Human Genetics : EJHG·Minh NguyenHubert J M Smeets
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Sep 2, 2015·Journal of Neuromuscular Diseases·Edoardo MalfattiJocelyn Laporte
Oct 3, 2019·Clinical Dysmorphology·Rim Frikha
May 6, 2020·American Journal of Medical Genetics. Part a·Noura Al DhaheriPhilip F Giampietro
Mar 12, 2019·Npj Regenerative Medicine·Ekaterina SalimovaNadia A Rosenthal
Jun 23, 2019·Journal of Muscle Research and Cell Motility·Caroline A SewryCarina Wallgren-Pettersson
Oct 30, 2019·Molecular Medicine Reports·Xujun TangJiahong Zhang
Apr 13, 2020·BMC Musculoskeletal Disorders·Ziquan LiNan Wu
Feb 21, 2019·American Journal of Medical Genetics. Part a·Bronwyn D PowerMichael J O'Grady
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Nov 13, 2020·American Journal of Medical Genetics. Part a·Fadie D AltuameFowzan S Alkuraya
Feb 27, 2021·Frontiers in Cell and Developmental Biology·Zhaohui OuyangYaming Jiu
May 14, 2021·BMJ Case Reports·Husain Abdulameer AbdaliAlmughirah Salahaldin Mohamed
May 11, 2021·International Journal of Paleopathology·Zuzana Hukeľová, Mária Krošláková

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